Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet. 1995;56(2):519-27.
Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987;236(4808):1567-70.
Hemani G, Shakhbazov K, Westra HJ, et al. Detection and replication of epistasis influencing transcription in humans. Nature. 2014;508(7495):249-53. doi:10.1038/nature13005
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(Pt 4):836-44. doi:10.1093/brain/awv013
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;58(6):1347-63.
Accili D, Frapier C, Mosthaf L, et al. A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J. 1989;8(9):2509-17.